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Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome

Last updated April 21, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Boucher-Neuhäuser Syndrome
  • Chorioretinal Dystrophy, Spinocerebellar Ataxia and Hypogonadotropic Hypogonadism

What is Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome? (Definition/Background Information)

  • Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder
  • It is characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics)
  • Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome 

(Source: Ataxia Hypogonadism Choroidal Dystrophy Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome? (Age and Sex Distribution)

  • Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome is a rare congenital disorder
  • The presentation of symptoms are variable and may occur during childhood or early-to-late adulthood
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome can be inherited
  • Currently, no risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome? (Etiology)

  • The exact cause of development of Ataxia Hypogonadism Choroidal Dystrophy Syndrome is not well-understood
  • However, it is reportedly a genetic disorder that is transmitted in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome?

The signs and symptoms of Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome may include:

  • Abnormality of metabolism/homeostasis
  • Areflexia
  • Cerebellar atrophy
  • Distal amyotrophy
  • Hyporeflexia
  • Intention tremor
  • Photophobia
  • Progressive
  • Progressive visual loss
  • Retinal dystrophy
  • Scanning speech
  • Spinocerebellar atrophy

Based on the frequency of symptoms observed, the following information may be noted:

Very frequently present symptoms in 80-99% of the cases:

  • Ataxia
  • Chorioretinal dystrophy
  • Hypogonadotrophic hypogonadism

Occasionally present symptoms in 5-29% of the cases:

  • Abnormal upper motor neuron morphology 
  • Spasticity

(Source: Ataxia Hypogonadism Choroidal Dystrophy Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome Diagnosed?

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome?

The complications of Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome may include:

  • Neurological impairment
  • Vision loss
  • Infertility

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome Treated?

There is no cure for Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome be Prevented?

Currently, Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome? (Outcomes/Resolutions)

  • The prognosis of Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 21, 2018
Last updated: April 21, 2018